See official press release on PRN here.
NEW YORK, May 3, 2021 /PRNewswire/ — 64 years old at diagnosis, Caren is the oldest known person with SYNGAP1-related disorder in the United States. Today, May 3rd, Caren’s 65th birthday, the SynGAP Research Fund (SRF) announces a new film about her remarkable life, family, and diagnosis journey: Celebrating Caren. The film, 16 minutes long, is viewable at SyngapResearchFund.org/Caren.
SYNGAP1 non-syndromic intellectual disability (NSID) is a rare genetic disorder caused by a variation on the SYNGAP1 gene. It leads to several neurological complications, including mild-to-severe intellectual disability, epilepsy, autism, sleep disorder, hypotonia (low muscle tone), apraxia (delayed/no speech), impulsivity and aggression. There are only 762 diagnosed patients identified globally according to the #SyngapCensus, despite a predicted incidence of 6.1 per 100,000. Virtually all patients are diagnosed as children, which makes Caren’s story remarkable.
The film raises awareness about SYNGAP1 while recounting Caren’s life, her challenges, and the strength she showed to overcome them. The film features Caren’s sister, Nancy Kessler, who writes, “My goal in creating Celebrating Caren was to make a difference. I wanted to reach families that are yet to have a diagnosis, as I can attest to how difficult this journey can be. I know there are more ‘Carens’ out there, and they need to be found.”
A New York SYNGAP1 parent who is in the movie, Jessica Duggan, writes, “Many parents believe that Caren’s experiences shed light onto our own children’s future.” This is why SYNGAP1 families worldwide have helped create subtitles in their native languages.
Also featured are Caren’s phenomenal team of doctors: Drs. Claire Gigaux, Darius Adams and Orrin Devinsky speak about SYNGAP1, genetic testing and potential therapies.
“Caren’s story is a moving tale of the power of families and strength, and how individuals with serious neurological disorders can navigate life successfully with love. It is also a tale of scientific discovery, but most importantly, how someone with such a disabling disorder can find joy and love. A lesson for us all,” says Dr. Devinsky.
SRF is grateful to Executive Producer illumina for their support. Dr. Shirlene Badger, PhD, Patient Advocacy Lead EMEA at illumina says, “We are deeply passionate about ending the diagnostic odyssey that so many individuals and their families not only endure but suffer in their search for answers. Caren is an icon – not just because of her spirit and what she has lived through, but because of how her life shows us the power of genomics at any age. Her story gives us a glimpse both back in time and into the future.”
The film’s director, Daniel DeFabio of The DISORDER Channel says, “Rare disease films are always personal for me, but to be welcomed into the very personal stories of Caren, Nancy and Jess’ families was a real privilege. It was inspiring to see the dedication and caring their medical teams put in.”
ABOUT SYNGAP RESEARCH FUND
SRF, incorporated in 2018, is a 501(c)(3) public charity. Their mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely parent-led, SRF is the largest non-government funder of SynGAP research with over $1M in grants. The founders cover all operational costs, allowing 100% of donations to go to research. SRF is a member of the American Brain Coalition, COMBINEDbrain, Global Genes Foundation Alliance, Personalized Medicine Coalition and the SynGAP Global Network. For more information, visit SynGAPResearchFund.org.
SOURCE SynGAP Research Fund